Dijagnostika i liječenje amiloidoze srca

master's thesis

• Title (english): Diagnosis and treatment of cardiac amyloidosis
• Author: Barbara Kukas
• Mentor: Matias Trbušić (mentor)
• Committee member: Nikola Bulj (predsjednik povjerenstva)
• Committee member: Martina Lovrić Benčić (član povjerenstva)
• Committee member: Matias Trbušić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Amiloidoza je rijetka bolest koja nastaje nakupljanjem abnormalnog proteina amiloida u raznim organima; srce, jetra, bubrezi, pluća, probavni sustav i živčani sustav. Amiloidi nisu dio normalnog sastava ljudskog tijela, ali se mogu formirati iz više različitih proteina. Češća je u muškaraca nego u žena i rijetko se javlja prije četrdesete godine života. Depoziti amiloida odlažu se u srčanom tkivu i s vremenom zamijenjuju normalno srčano tkivo što uzrokuje zatajivanje srca. Amiloidoza je najčešći uzrok restriktivne kardiomiopatije. Tri najčešće vrste amiloidoze srca su amiloidoza lakih lanaca, divlji tip amiloidoze transtiretina i hereditarna amiloidoza transtiretina. Ona može biti posljedica neke druge bolesti, neoplazme, infekcije ili upalnog stanja. Simptomi i znakovi bolesti su kardijalni i ekstrakardijalni te variraju od blagih simptoma (u početnim fazama bolesti) do refrakternog zatajivanja srca (u uznapredovalim fazama boesti). Vezani su uz pojavu plućne i periferne kongestije te malog minutnog volumena. Simptomi vezani uz aritmije i smetnje provođenja su presinkopa, sinkopa i iznenadna smrt. Bolest je progresivna i letalna, a često neprepoznata u svojim ranim fazama. U dijagnostici koristimo elektrokardiogram, laboratorijske pretrage, ehokardiografiju, magnetsku rezonanciju, nuklearnu slikovnu dijagnostiku i biopsiju masnog tkiva, srca ili bubrega kao zlatni standard. Liječenje ovisi o vrsti amiloidoze i dobi bolesnika. Od standardne terapije za kronično zatajivanje srca koriste se diuretici dok ostali lijekovi ne pomažu ili čak mogu pogoršati kliničku sliku. Ostala terapija uključuje elektrostimulatore, implatabilne kardioverter defibrilatore, a ovisno o vrsti i stadiju bolesti i kemoterapiju, ortotopnu transplantacija srca i jetre te stabilizatore transtiretina.

Abstract (english)

Amyloidosis is a rare disease that occurs when abnormal protein amyloid builds up in different organs: heart, liver, kidneys, lungs, digestive system and nervous system. Amyloids are not normal part of human body, but they can transform from several different proteins. Cardiac amyloidosis is more common in men than in women. It rarely occurs before the age of forty. Deposits of amyloids build up in heart tissue and after some time they replace normal heart muscle which will lead to heart failure. The most common cause of cardiac amyloidosis is restrictive cardiomyopathy. This disease can be inherited and then it is called familial cardiac amyloidosis. Also it can be caused by some other disease, such as neoplasia, infection or some other infammatory syndrom. Symptoms can vary from asimptomatic(in the early stage of disease) to restrictive cardiomiopathy (in late stage of disease). Symptoms and signs are fatigue, dyspnea with or without orthopnea, swelling of the abdomen, legs and other parts of the body. The signs of cardiac amyloidosis can often be similar to some other diseases so sometimes it can be difficult to diagnose it in early stages. For diagnosis we use EKG, echocardiography, MRI, nuclear imaging (radionuclids, PET, bone scintigraphy), cardiac biopsy and biomarkers. Treatment depends on type of amyloidosis and patient's age. For treatment we use supportive therapy, pacemaker, implatable cardioverter defibrilator, chemotherapy, orthotopic heart and liver transplantation and transthyretin stabilizers.

• Keywords: amiloidoza srca; dijagnostika; liječenje
• Keywords (english): cardiac amyloidosis; diagnosis; treatment
• Language: croatian
• URN:NBN: urn:nbn:hr:105:324290
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-03-07 09:59:53